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NM_000492.4(CFTR):c.3368-2A>T

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Sep 27, 2019)
Last evaluated:
Sep 1, 2016
Accession:
VCV000371331.2
Variation ID:
371331
Description:
single nucleotide variant
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NM_000492.4(CFTR):c.3368-2A>T

Allele ID
357575
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
7q31.2
Genomic location
7: 117614611 (GRCh38) GRCh38 UCSC
7: 117254665 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_663:g.153828A>T
LRG_663t1:c.3368-2A>T
NC_000007.13:g.117254665A>T
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000007.14:117614610:A:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA4451451
dbSNP: rs755416052
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 criteria provided, single submitter Sep 1, 2016 RCV000409745.1
Pathogenic 1 criteria provided, single submitter - RCV001004497.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
CFTR - - GRCh38
GRCh37
1974 2730

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Sep 01, 2016)
criteria provided, single submitter
Method: clinical testing
Cystic fibrosis
Allele origin: unknown
Counsyl
Accession: SCV000486891.1
Submitted: (Nov 23, 2016)
Evidence details
Publications
PubMed (1)
Pathogenic
(-)
criteria provided, single submitter
Method: clinical testing
Congenital bilateral aplasia of vas deferens from CFTR mutation
Cystic fibrosis
Allele origin: germline
Baylor Genetics
Accession: SCV001163542.1
Submitted: (Sep 27, 2019)
Evidence details

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
Improved detection of CFTR mutations in Southern California Hispanic CF patients. Wong LJ Human mutation 2001 PMID: 11668613

Text-mined citations for rs755416052...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Nov 27, 2021